Project Summary

David Pauls, Ph.D. (Distinguished Investigator 2003) of Massachusetts General Hospital, will study a northern Finnish population, a well-known genetic isolate population, to identify genes responsible for autism and Asperger's Syndrome using a population genetic mapping (PGM) approach.  He will collect comprehensive phenotypic information and DNA from 100 individuals with functioning autism and Asperger's Syndrome and 100 controls and their families.  This data will allow for a more thorough examination of genes in candidate regions suggested by extant genetic linkage studies.  Several regions of interest have been identified by other researchers, but the genetics of autism is complex.  The absence of previous consistent significant findings indicates that there must be multiple genes, either many genes with strong alleles of low frequency or common variants in genes with weak alleles.  He expects that this population will have less genetic heterogeneity and environmental variability than other populations, and will lead to improved power for gene detection.  Dr. Pauls will seek NIH funding to enlarge the sample and genotype all individuals with a dense map of polymorphic DNA markers so that linkage disequilibrium (LD) analyses can be performed to identify regions of the genome that may harbor susceptibility loci for autism and related conditions. 

Program Area: PERVASIVE DEVELOPMENTAL DISORDERS\Asperger's Disorder

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